Cheesesteaks and Pirate Hooks

After our last pediatric cardiologist appointment on July 16th, our doctor referred us to the Children's Hospital of Philadelphia (CHOP) to get a second opinion on Beau's heart.  We had a full day of testing and meetings scheduled on August 14, 2013.

When we arrived in Philadelphia the evening before, we needed to check something off our bucket list - eat a REAL Philly Cheesesteak sandwich!  Many people say Pat's and Geno's have two of the best but both of the reception ladies at the hotel said Jim's Steaks was EVEN better!!!  So we headed into Philly to enjoy the real deal - cheese whiz and all!!  

Our day at CHOP began with a fetal echo with the sonographer and she took every image and measurement of Beau's heart. Immediately following, we met with a cardiologist and a nurse coordinator.  They confirmed all the things our doctor at Portsmouth Naval Medical Center has diagnosed- AVSD and TOF.  She even said that she believed Beau should not be blue at birth, that he should pink up normally.  All the blood flowing out of his pulmonary valve (toward the lungs) is going in the right direction!  She does not think he will need any immediate surgery as long as the heart continues to work as it is now when Beau is on his own.  They gave us the name of the chief of cardiac surgery who we will contact between 4-6 months after Beau is born for his full heart surgery.

Our next stop was with another sonographer who did a full ultrasound on every inch of Beau's body.  We got to see everything from his fingers and toes to all the hair on his head!  The ultrasound took about an hour and a half (with two snack breaks to get him moving) and she got all the pictures she needed.  She took the picture below of Beau in 4-D and of course we loved seeing his little face!  We asked, "where is his hand?"  as we just saw her count all his fingers.  She told us with the multiple pictures the 4-D takes, it cut off his hand because it was too close to the camera. Well, we thought it would be a funny joke to send the picture to our families and tell them we were going to need a pirate hook for Beau's arm!!!  We were dying of laughter, tears rolling down our faces in the ultrasound room.  Needless to say, our family did not think the picture message was as funny as we did!!!!! 

 

Stop number three was with the genetic counselor.  She went through our family history and gave us some information on the developmental milestones of a child with Down Syndrome. She did tell us the chances of us having a second child with Down Syndrome would be about 1%. 

Next we met with a perinatologist who reviewed all the findings from both ultrasounds.     

• The sandal gap was still evident in one, if not both, of his feet. 
• His femur (upper leg bone) was measuring about 2 weeks behind (27 weeks) and his humerus (upper arm bone) was measuring about 3 weeks behind (26 weeks).  As many children with Down Syndrome are shorter in statue; these measurements are common.
• Beau has the middle bone in his finger but it is smaller than normal.  Many children with DS have clinodactyly which is a curvature or bending of the pinkie fingers inward which is caused by either a small or missing middle bone in the 5th finger.
• As of now, no brain or stomach abnormalities! 
• No additional skin was visible behind Beau's neck.
• Beau has a nose bone!  Some children with DS are missing their nasal bone which gives them a more flat nose.
• Heart rate was 143 beats per minute.

The biggest news we received in Philadelphia is that the doctors there also believe Beau can be delivered at our home hospital in VA.  This was such a confirmation from the Lord! 

Back in Virginia, on Friday, August 16th, we had a follow up appointment with our high risk OB and a walk through the NICU.  We had a chance to talk with our pediatric cardiologist and she doesn't believe Beau will need to stay in the NICU at all but the tour was a nice "back up" incase things would be more complicated at his birth. We also got to meet with a neonatologist and answer questions but ultimately hope there will be no need for Beau to be seen by their team. While we visited the NICU, we also met sweet Baby Isaac... the newest miracle from the Lord, born to another family at our church.

In the coming months appointments will increase as they watch Beau closely to make sure he stays on track.  Children with Down Syndrome have a high rate of still birth so beginning at 34 weeks, Marisa will take weekly non-stress tests to monitor Beau's activity.  At 35 weeks, we will visit the pediatric cardiologist (in VA)  again to confirm that Beau's heart is still growing and flowing as it is now. 

We thank you again for partnering with us in praying for Baby Beau.  You can be praying for: 

1. Beau's heart and other internal organs as they grow and mature; The Lord's healing if that is part of His plan
2. Understanding at our places of employment as doctor's visits increase
3. People to see God's goodness through this pregnancy, Beau's life, and our testimony

And that's 'Arrrrrgh' she wrote!

Welcome to Holland

On our way to Minnesota, while driving through Wisconsin with no reception, the Lord allowed for a phone call from the genetic counselor with the results from our Non-invasive prenatal test (NIPT). She confirmed what we had been preparing for, there is a 99% chance our little Beau will have Down Syndrome.  Taking one step back to our doctor’s appointment, the cardiologist told us a child with AVSD has about a 50% change of having DS and when you add the second defect (TOF) the chances increased to 90%.  Our doctor had told us she has never seen a child with both of these heart defects and not have a chromosomal anomaly. So, we had been preparing for the news since our last appointment. We had been praying that the doctor’s call would come at a the perfect time for us to discuss when and how to tell family while we were in Minnesota. 

At the appointment with our cardiologist, she mentioned an analogy about how when you are pregnant it is like planning a trip to Italy but when your baby has a special need, you end up traveling to Holland instead.  A few days later, a friend from Michigan mentioned the same poem to us so we wanted to share this video with you.  The poem helps to explain how many people with special needs children feel when receiving news such as ours.

Welcome to Holland by Emily Perl Kingsley

https://www.youtube.com/watch?v=r15PuYoID94

You might be wondering how we are doing... Initially there were lots of emotions involved when we found out DS could be a possibility (weeks ago) but since then have really had time to pray, process, research, and discuss with others what this will mean for our family.  We definitely are feeling a range of emotions as no parent expects this news but we really feel the Lord has had His hand in our lives leading up to this point.  Marisa was brought back to a favorite verse from when Andrew was at boot camp --1 Corinthians 2.9 says,  No eye has seen, no ear has heard, no mind has conceived What God has prepared for those who love him. More clearly then ever, we see God’s path that has lead us to this point.  We know our choice to become a military family was from the Lord as Beau’s health care needs are 100% covered and secondly, the Lord led us to Upward Church where Marisa has found other women who are in similar circumstances to give her support.  

It has become very clear to us that not only have we been prepared but also our family.  Andrew’s mom has worked with Special Education for many years, Andrew’s sister Allison is a Special Education teacher, Marisa’s sister Jilayna was a PCA for a young adult with special needs, and Andrew taught adaptive PE to special needs students in high school.  Marisa’s aunt Sue also has a nephew with DS and we were given the opportunity to talk with his mother who is already showing to be an excellent resource to us. She mentioned a little twist on the earlier analogy of Welcome to Holland in saying that we are still going to Italy but instead of traveling the country via public transportation, we are now going to be backpacking, seeing all of the same areas of Italy but at a slower and often more challenging pace. 

Some of you may not be as knowledgeable as others about Down Syndrome so if you have a few minutes, watch this great video explaining more about what a life with DS looks like and how you can be a friend or family member to Beau.

Just Like You:   https://www.youtube.com/watch?v=5M--xOyGUX4

As we were telling family and friends, many of the same question arose that we want to address right away to eliminate any confusion or misunderstanding.  

• What causes DS? It is an extra chromosome of genetic material on chromosome 21, also known as Trisomy 21 (three 21 chromosomes). It is caused by a mistake in cell division during the development of the egg, sperm, or embryo.  Down Syndrome is not inherited, nor was it caused by anything either of us did... we were simply chosen to be parents to a sweet boy with Down Syndrome. It is genetic meaning that it is a condition involving the makeup of his genes.
• Will you have more children?  Right now we don’t know what it will look like raising Beau but the option is not off the table.  We both desire to have have another child in the future.
• How will this effect Andrew being in the Navy?  One of the benefits of being in the Navy is the Exceptional Family Member Program.  The Navy has special resources for families with special needs children. At this time, Andrew does not know how this will effect his deployment schedule or where Andrew can be stationed in the future.

There are a few things we would love for you to keep in mind...Down Syndrome is not a disease, it is how Beau will be born.  As he grows, we will need to focus on the positive, little things.  We don’t want you to feel sorry for us; this is going to effect our family in so many positive ways.  The biggest thing you need to know is we are remaining an open book; we want you to ask questions and hear information straight from us. We want to bring you in this experience with us and generate awareness for Down Syndrome. 

As you continue to lift up Beau in prayer for his heart, we would also ask that you pray for his internal organs to be formed properly. Children with DS often have gastrointestinal problems. In addition, we ask you to pray for his eyes, ears, and mouth as babies with Down Syndrome have problems with sight and hearing.  DS children have delayed muscle tone (hypotonia) which often effects speech and feeding. 

An second prayer would be for our jobs to be flexible and understanding with our circumstances as we don’t know what time commitments will look like when Beau arrives.

Lastly, you can be praying for us to continue to trust the Lord’s plan and follow His path one day and step at a time. We want to stay as positive as we can and keep from stressing about what the future may bring.  We continuously lift Beau in prayer and ask that God be glorified in our lives and others through our story.